Browsing by Author "Guerra, I."
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- Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesisPublication . Sousa, R.; Gonçalves, C.; Guerra, I.; Costa, E.; Fernandes, A.; Bom-Sucesso, M.; Azevedo, J.; Rodriguez, A.; Rius, R.; Seabra, C.; Ferreira, F.; Ribeiro, L.; Ferrão, A.; Castedo, S.; Cleto, E.; Coutinho, J.; Carvalho, F.; Barbot, J.; Porto, B.BACKGROUND: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA. However, the significance of RDW and its possible relation to stress erythropoiesis have never been explored in FA. In the present study we analyzed routine complete blood counts from 34 FA patients and evaluated RDW, correlating with the hematological parameters most consistently associated with the FA phenotype. RESULTS: We showed, for the first time, that RDW is significantly increased in FA. We also showed that increased RDW is correlated with thrombocytopenia, neutropenia and, most importantly, highly correlated with anemia. Analyzing sequential hemograms from 3 FA patients with different clinical outcomes, during 10 years follow-up, we confirmed a consistent association between increased RDW and decreased hemoglobin, which supports the postulated importance of RDW in the evaluation of hematological disease progression. CONCLUSIONS: This study shows, for the first time, that RDW is significantly increased in FA, and this increment is correlated with neutropenia, thrombocytopenia, and highly correlated with anemia. According to the present results, it is suggested that increased RDW can be a novel marker of stress erythropoiesis in FA.
- Pâncreas heterotópico numa criança com Trissomia 8 em mosaico: uma associação acidental?Publication . Silva, G.; Guerra, I.; Morais, L.; Senra, V.; Pereira, F.Introdução: O Pâncreas heterotópico (PH), definido pela presença de tecido pancreático em local não usual, é uma malformação congénita rara, habitualmente assintomática. O diagnóstico pré-operatório é dificultado pela semelhança com os tumores da camada submucosa. Caso clínico: Os autores relatam o caso de uma criança do sexo masculino com Trissomia 8 em mosaico, divertículo de Meckel e onfalocelo, com pâncreas ectópico na pequena curvatura gástrica, cuja forma de apresentação foi a hemorragia digestiva alta. O doente foi submetido a exérese cirúrgica da lesão. Discussão/Conclusão: O Síndrome da Trissomia 8 em mosaico é uma anomalia cromossómica frequente, mas até à data não está descrita a associação desta entidade com o PH ou com outras anomalias gastrointestinais. No entanto, é reconhecida a associação do PH com outras malformações gastrointestinais, como a atrésia esofágica, o onfalocelo e o divertículo de Meckel. ABSTRACT Introduction: Heterotopic pancreas is a rare congenital malformation, usually asymptomatic. It is defined as pancreatic tissue found outside the usual anatomic location of the pancreas. The preoperative diagnosis is difficult because most of the cases have an appearance similar to submucosal tumours. Case report: We report the case of a three-year-old male with 8 trisomy mosaicism, Meckel´s diverticulum and omphalocele with an ectopic pancreatic lesion. It was located in the stomach less curvature, and presenting as gastrointestinal bleeding. Discussion/Conclusion: Trisomy 8 mosaicism syndrome is a relatively common chromosomal abnormality but so far there is no known relationship between HP or other gastrointestinal malformations and this chromosomopathy. Nevertheless, there is a relationship between HP and various gastrointestinal malformations, including esophageal atresia, omphalocele and Meckel´s diverticulum.
- Pneumonia aguda da comunidade de evolução complicadaPublication . Ramos, A.; Guerra, I.; Barbosa, T.; Silva, C.; Ferreira, C.; Reis, G.
- Tumefacção Parotídea Bilateral com Crepitações SubcutâneasPublication . Guerra, I.; Costa, E.; Mansilha, H.; Lima, R.ABSTRACT The presence of air within the parotid gland is called pneumoparotid. This is a rare cause of parotid swelling and is associated to many precipitant factors. A seven -year -old boy was seen at the Emergency Department due to a sudden bilateral parotid swelling. The physical examination revealed a crepitus in the parotid glands. Radiography and ultrasonography suggested the presence of air. This acute episode was self -limited with complete resolution within forty -eight hours. Clinical history revealed that the child had been fi lling up balloons before the symptoms began. An early diagnosis avoids recurrent attacks and is based on the identifi cation of air within the parotid gland associated with the existence of precipitant factors.